Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer-Reference-Cited by-同舟云学术

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Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer

Published:2010-05-01 Issue:1 Volume:124 Page:259-264
ISSN:0167-6806
Container-title:Breast Cancer Research and Treatment
language:en
Short-container-title:Breast Cancer Res Treat

Author:

Hansen Thomas v. O.,Jønson Lars,Albrechtsen Anders,Steffensen Ane Y.,Bergsten Eva,Myrhøj Torben,Ejlertsen Bent,Nielsen Finn C.

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Oncology

Link

http://link.springer.com/content/pdf/10.1007/s10549-010-0909-9.pdf

Reference29 articles.

1. Thompson D, Easton D (2004) The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia 9(3):221–236

2. Moynahan ME, Pierce AJ, Jasin M (2001) BRCA2 is required for homology-directed repair of chromosomal breaks. Mol Cell 7(2):263–272

3. Davies AA, Masson JY, McIlwraith MJ, Stasiak AZ, Stasiak A, Venkitaraman AR, West SC (2001) Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Mol Cell 7(2):273–282

4. Shin S, Verma IM (2003) BRCA2 cooperates with histone acetyltransferases in androgen receptor-mediated transcription. Proc Natl Acad Sci USA 100(12):7201–7206

5. Marmorstein LY, Kinev AV, Chan GK, Bochar DA, Beniya H, Epstein JA, Yen TJ, Shiekhattar R (2001) A human BRCA2 complex containing a structural DNA binding component influences cell cycle progression. Cell 104(2):247–257

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1. Fertility Preservation in BRCA1/2 Germline Mutation Carriers: An Overview;Life;2024-05-10

2. Trends of germline mutations in women with breast and ovarian carcinoma;International Journal of Molecular and Immuno Oncology;2023-06-03

3. Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations;Familial Cancer;2022-05-21

4. Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance;Cancers;2019-03-01

5. Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk - A Greenlandic Case-Control Study;Basic & Clinical Pharmacology & Toxicology;2018-04-23

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